DiGeorge syndrome
DiGeorge Syndrome
DiGeorge Syndrome (pronounced dee-jorj sin-drohm), also known as 22q11.2 deletion syndrome, is a disorder caused by the deletion of a small segment of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.
Etymology
The syndrome is named after the pediatric endocrinologist Angelo DiGeorge, who first described the condition in 1968.
Symptoms
DiGeorge Syndrome is characterized by several features, including congenital heart disease, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. The signs and symptoms of this condition vary widely, even among members of the same family.
Causes
The cause of DiGeorge Syndrome is a deletion of material in one of the 46 chromosomes - chromosome 22. Most people have two copies of each chromosome, one from each parent, but in this syndrome, one copy of chromosome 22 is missing a piece, which contains about 30 to 40 genes.
Diagnosis
Diagnosis of DiGeorge Syndrome often relies on a combination of clinical findings and genetic testing. The FISH test (fluorescence in situ hybridization) is often used to analyze blood samples for the deletion in chromosome 22.
Treatment
There is no cure for DiGeorge Syndrome. Treatment is based on the individual symptoms and may include surgery for congenital heart defects and cleft palate, medications to help the immune system function properly, and therapies to aid in development and learning.
Related Terms
External links
- Medical encyclopedia article on DiGeorge syndrome
- Wikipedia's article - DiGeorge syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski